| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.87 | OBSCN | Zornitza Stark Phenotypes for gene: OBSCN were changed from Rhabdomyolysis, MONDO:0005290 to Rhabdomyolysis, MONDO:0005290, OBSCN-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Marked gene: OBSCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Gene: obscn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Classified gene: OBSCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Gene: obscn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.85 | OBSCN |
Ee Ming Wong gene: OBSCN was added gene: OBSCN was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: OBSCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSCN were set to PMID: 34957489 Phenotypes for gene: OBSCN were set to Rhabdomyolysis, MONDO:0005290 Penetrance for gene: OBSCN were set to unknown Review for gene: OBSCN was set to GREEN gene: OBSCN was marked as current diagnostic Added comment: -Six unrelated individuals with severe, recurrent rhabdomyolysis carrying bi-allelic loss of function variants -Three of six probands experienced acute renal failure -None presented with cardiac involvement/symptoms of cardiac disease -Patient muscles demonstrated reduced OBSCN expression and loss of obscurin protein Sources: Literature |
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